Patricia K Duffner

Summary

Affiliation: University at Buffalo
Country: USA

Publications

  1. pmc Array CGH improves detection of mutations in the GALC gene associated with Krabbe disease
    Alice K Tanner
    Emory Genetics Laboratory, Department of Human Genetics, Emory University, Atlanta, GA, USA
    Orphanet J Rare Dis 7:38. 2012
  2. doi request reprint Developmental and functional outcomes in children with a positive newborn screen for Krabbe disease: a pilot study of a phone-based interview surveillance technique
    Patricia K Duffner
    Department of Neurology, University at Buffalo School of Medicine, Buffalo, NY 14203, USA
    J Pediatr 161:258-63.e1. 2012
  3. doi request reprint Later onset phenotypes of Krabbe disease: results of the world-wide registry
    Patricia K Duffner
    Hunter James Kelly Research Institute, Department of Neurology, School of Medicine, State University of New York at Buffalo, Buffalo, New York 14203, USA
    Pediatr Neurol 46:298-306. 2012
  4. doi request reprint Newborn screening for Krabbe disease: the New York State model
    Patricia K Duffner
    Hunter James Kelly Research Institute, Department of Neurology, University at Buffalo, State University of New York, Buffalo, New York, USA
    Pediatr Neurol 40:245-52; discussion 253-5. 2009
  5. doi request reprint Risk factors for cognitive decline in children treated for brain tumors
    Patricia K Duffner
    University at Buffalo School of Medicine, Hunter James Kelly Research Institute, Center of Excellence in Bioinformatics, 701 Ellicott Street, Buffalo, NY 14203, USA
    Eur J Paediatr Neurol 14:106-15. 2010
  6. doi request reprint The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York
    Patricia K Duffner
    Department of Neurology and Hunter James Kelly Research Institute, University at Buffalo School of Medicine, Buffalo, New York 14203, USA
    Genet Med 11:450-4. 2009
  7. doi request reprint The Hunter's Hope Krabbe family database
    Patricia K Duffner
    Department of Neurology, Hunter James Kelly Research Institute, School of Medicine and Biomedical Sciences, Buffalo, New York 14203, USA
    Pediatr Neurol 40:13-8. 2009
  8. doi request reprint The child neurologist's role in newborn screening programs: a commentary
    Patricia K Duffner
    Hunter James Kelly Research Institute, University at Buffalo School of Medicine, Buffalo, NY 14203, USA
    Semin Pediatr Neurol 15:117-8. 2008
  9. ncbi request reprint Diagnosis of brain tumors in children
    Patricia K Duffner
    University at Buffalo School of Medicine, Hunter James Kelly Research Institute, Buffalo, NY, USA
    Expert Rev Neurother 7:875-85. 2007
  10. doi request reprint Early infantile Krabbe disease: results of the World-Wide Krabbe Registry
    Patricia K Duffner
    Hunter James Kelly Research Institute, Department of Neurology, School of Medicine, State University of New York at Buffalo, Buffalo, NY 14203, USA
    Pediatr Neurol 45:141-8. 2011

Collaborators

Detail Information

Publications20

  1. pmc Array CGH improves detection of mutations in the GALC gene associated with Krabbe disease
    Alice K Tanner
    Emory Genetics Laboratory, Department of Human Genetics, Emory University, Atlanta, GA, USA
    Orphanet J Rare Dis 7:38. 2012
    ..The most common mutation in the Caucasian population is a 30-kb deletion of exons 11 through 17. There are few other reports of intragenic GALC deletions or duplications, due in part to difficulties detecting them...
  2. doi request reprint Developmental and functional outcomes in children with a positive newborn screen for Krabbe disease: a pilot study of a phone-based interview surveillance technique
    Patricia K Duffner
    Department of Neurology, University at Buffalo School of Medicine, Buffalo, NY 14203, USA
    J Pediatr 161:258-63.e1. 2012
    ....
  3. doi request reprint Later onset phenotypes of Krabbe disease: results of the world-wide registry
    Patricia K Duffner
    Hunter James Kelly Research Institute, Department of Neurology, School of Medicine, State University of New York at Buffalo, Buffalo, New York 14203, USA
    Pediatr Neurol 46:298-306. 2012
    ..Five-year and 10-year survivals for all later onset phenotypes were at least 50%. The later onset Krabbe phenotypes differ from those with early infantile disease, but no specific predictor of phenotype was identified...
  4. doi request reprint Newborn screening for Krabbe disease: the New York State model
    Patricia K Duffner
    Hunter James Kelly Research Institute, Department of Neurology, University at Buffalo, State University of New York, Buffalo, New York, USA
    Pediatr Neurol 40:245-52; discussion 253-5. 2009
    ....
  5. doi request reprint Risk factors for cognitive decline in children treated for brain tumors
    Patricia K Duffner
    University at Buffalo School of Medicine, Hunter James Kelly Research Institute, Center of Excellence in Bioinformatics, 701 Ellicott Street, Buffalo, NY 14203, USA
    Eur J Paediatr Neurol 14:106-15. 2010
    ..Whether these changes in therapy will ultimately improve the quality of life of the long-term survivors is uncertain. Close follow-up of these children will be required throughout their lives...
  6. doi request reprint The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York
    Patricia K Duffner
    Department of Neurology and Hunter James Kelly Research Institute, University at Buffalo School of Medicine, Buffalo, New York 14203, USA
    Genet Med 11:450-4. 2009
    ..A broad range of individuals participated, including clinicians, academicians, and authorities from the National Institutes of Health, American College of Medical Genetics, and Department of Health and Human Services...
  7. doi request reprint The Hunter's Hope Krabbe family database
    Patricia K Duffner
    Department of Neurology, Hunter James Kelly Research Institute, School of Medicine and Biomedical Sciences, Buffalo, New York 14203, USA
    Pediatr Neurol 40:13-8. 2009
    ....
  8. doi request reprint The child neurologist's role in newborn screening programs: a commentary
    Patricia K Duffner
    Hunter James Kelly Research Institute, University at Buffalo School of Medicine, Buffalo, NY 14203, USA
    Semin Pediatr Neurol 15:117-8. 2008
  9. ncbi request reprint Diagnosis of brain tumors in children
    Patricia K Duffner
    University at Buffalo School of Medicine, Hunter James Kelly Research Institute, Buffalo, NY, USA
    Expert Rev Neurother 7:875-85. 2007
    ..Diagnosis is then confirmed by neuroradiologic studies, including computed tomography, MRI and magnetic resonance spectroscopy...
  10. doi request reprint Early infantile Krabbe disease: results of the World-Wide Krabbe Registry
    Patricia K Duffner
    Hunter James Kelly Research Institute, Department of Neurology, School of Medicine, State University of New York at Buffalo, Buffalo, NY 14203, USA
    Pediatr Neurol 45:141-8. 2011
    ..Other biomarkers are needed to predict phenotype in the newborn screening population...
  11. doi request reprint Does galactocerebrosidase activity predict Krabbe phenotype?
    Kabir Jalal
    Department of Biostatistics, Population Health Observatory, School of Public Health and Health Professions, State University of New York at Buffalo, Buffalo, New York, USA
    Pediatr Neurol 47:324-9. 2012
    ..Our findings provide empiric evidence that the upper end (0.15 nmol/hour/mg protein) of the high-risk galactocerebrosidase group in the New York State newborn screening program is conservatively appropriate...
  12. ncbi request reprint Long-term effects of radiation therapy on cognitive and endocrine function in children with leukemia and brain tumors
    Patricia K Duffner
    Department of Neurology, School of Medicine and Biomedical Sciences, State University of New York at Buffalo, 219 Bryant Street, Buffalo, NY 14222, USA
    Neurologist 10:293-310. 2004
    ..These complications have been studied most extensively in children with brain tumors and leukemia...
  13. doi request reprint Death rates in the U.S. due to Krabbe disease and related leukodystrophy and lysosomal storage diseases
    Amy L Barczykowski
    Population Health Observatory, School of Public Health and Health Professions, University at Buffalo, Buffalo, New York, USA
    Am J Med Genet A 158:2835-42. 2012
    ..It is presumed that most, if not all, will develop later onset forms of the disease, but this is by no means certain...
  14. pmc The long term effects of chemotherapy on the central nervous system
    Patricia K Duffner
    Department of Neurology, Women and Children s Hospital of Buffalo, University of Buffalo School of Medicine, 219 Bryant St, Buffalo, NY 14222, USA
    J Biol 5:21. 2006
    ..By identifying the cell populations at risk, these results may help explain the neurological problems previously seen after chemotherapy...
  15. doi request reprint Patterns of magnetic resonance imaging abnormalities in symptomatic patients with krabbe disease correspond to phenotype
    Ahmed N Abdelhalim
    Department of Neuroradiology, Roswell Park Cancer Institute, Buffalo, New York
    Pediatr Neurol 50:127-34. 2014
    ..Initial magnetic resonance imaging studies of individuals with Krabbe disease were analyzed to determine whether the pattern of abnormalities corresponded to the phenotype...
  16. ncbi request reprint Do serum sodium levels predict febrile seizure recurrence within 24 hours?
    Jill Ellyn Thoman
    University of Buffalo Medical School, Buffalo, New York, USA
    Pediatr Neurol 31:342-4. 2004
    ..These findings reaffirm the recommendation of the American Academy of Pediatrics Practice Parameter to not routinely obtain electrolytes...
  17. ncbi request reprint Detection of coronavirus in the central nervous system of a child with acute disseminated encephalomyelitis
    E Ann Yeh
    Department of Neurology, State University of New York at Buffalo, School of Medicine and Biomedical Sciences, Buffalo, New York, USA
    Pediatrics 113:e73-6. 2004
    ..This case report provides additional support for the hypothesis that coronavirus may be an important etiologic factor in the pathogenesis of demyelinating disease in humans...
  18. ncbi request reprint Hyperkinetic seizures in children
    Arie Weinstock
    Department of Neurology, Children s Hospital of Buffalo, School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, NY, USA
    J Child Neurol 18:517-24. 2003
    ..Video-EEG is the most effective way of diagnosing this type of seizure...
  19. ncbi request reprint Childhood cerebellar hemangioblastoma does not predict germline or somatic mutations in the von Hippel-Lindau tumor suppressor gene
    Paul Graham Fisher
    Department of Neurology, Stanford University School of Medicine, Palo Alto, CA 94305 5235, USA
    Ann Neurol 51:257-60. 2002
    ..The tumorigenesis of hemangioblastoma in younger patients may differ from that in adults, and may involve a molecular process unrelated to the von Hippel-Lindau tumor suppressor pathway...
  20. ncbi request reprint Supratentorial primitive neuroectodermal tumors of infancy: clinical and radiologic findings
    Alper I Dai
    West Virginia University Children s Hospital, Department of Pediatrics, Morgantown, West Virginia, USA
    Pediatr Neurol 29:430-4. 2003
    ....